More than a ‘speed gene’: ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries

Juan Del Coso, Danielle Hiam, Peter Houweling, Laura M. Pérez, Nir Eynon, Alejandro Lucía

Research output: Contribution to journalReview ArticleResearchpeer-review

57 Citations (Scopus)

Abstract

A common null polymorphism (rs1815739; R577X) in the gene that codes for α-actinin-3 (ACTN3) has been related to different aspects of exercise performance. Individuals who are homozygous for the X allele are unable to express the α-actinin-3 protein in the muscle as opposed to those with the RX or RR genotype. α-actinin-3 deficiency in the muscle does not result in any disease. However, the different ACTN3 genotypes can modify the functioning of skeletal muscle during exercise through structural, metabolic or signaling changes, as shown in both humans and in the mouse model. Specifically, the ACTN3 RR genotype might favor the ability to generate powerful and forceful muscle contractions. Leading to an overall advantage of the RR genotype for enhanced performance in some speed and power-oriented sports. In addition, RR genotype might also favor the ability to withstand exercise-induced muscle damage, while the beneficial influence of the XX genotype on aerobic exercise performance needs to be validated in human studies. More information is required to unveil the association of ACTN3 genotype with trainability and injury risk during acute or chronic exercise.

Original languageEnglish
Pages (from-to)49-60
Number of pages12
JournalEuropean Journal of Applied Physiology
Volume119
Issue number1
DOIs
Publication statusPublished - 30 Jan 2019
Externally publishedYes

Keywords

  • Athletic performance
  • Common human polymorphism
  • Genomics
  • Muscle performance
  • α-Actinin-3 deficiency

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